Ocular Involvement in Patients with Infantile Nephropathic Cystinosis. [PDF]
Turk J OphthalmolÜzüm S +4 more
europepmc +3 more sources
Low density lipoprotein oxidation by ferritin at lysosomal pH [PDF]
, 2018 Oxidation of low density lipoprotein (LDL) has been proposed to be involved in the pathogenesis of atherosclerosis. We have previously shown that LDL can be oxidised by iron in lysosomes.
Leake, David S., Ojo, Oluwatosin O.
core +1 more source
Cystinosis and two rare mutations in CTNS gene: two case reports
Journal of Medical Case Reports, 2022 Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport.
Sepideh Gholami Yarahmadi +2 more
doaj +1 more source
Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate [PDF]
, 2012 Halitosis due to dimethylsulfide (DMS) generation is a major side effect of cysteamine in the treatment of cystinosis. Recently, an enteric coated formulation of cysteamine bitartrate (RP103) administered twice daily was demonstrated to be non-inferior ...
Besouw, Martine +4 more
core +1 more source
Anaesthetic management of a child with cystinosis
Egyptian Journal of Anaesthesia, 2017 Cystinosis is a lysosomal storage disorder which is characterized by abnormal accumulation of amino acid cysteine. Cystinosis affects various tissues of the body and has several anesthetic implications.
Shilpi Verma +3 more
doaj +1 more source
Synthesis of diacylated γ-glutamyl-cysteamine prodrugs, and in vitro evaluation of their cytotoxicity and intracellular delivery of cysteamine [PDF]
, 2015 To overcome the major disadvantages of cysteamine, the only registered treatment for the rare genetic disease cystinosis, nine prodrugs of γ-glutamyl-cysteamine (4) were synthesized for evaluation.
Anderson, Rosaleen +5 more
core +1 more source
Prenatal diagnosis of cystinosis [PDF]
, 1975 Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 55Sl-cystine retention was measured.
Blazer, Bonnie +3 more
core +1 more source
Non-invasive intradermal imaging of cystine crystals in cystinosis.
PLoS ONE, 2021 ImportanceDevelopment of noninvasive methodology to reproducibly measure tissue cystine crystal load to assess disease status and guide clinical care in cystinosis, an inherited lysosomal storage disorder characterized by widespread cystine crystal ...
Marya Bengali +10 more
doaj +1 more source
Grip Strength in Adults and Children with Cystinosis
Kidney International Reports, 2021 Introduction: Chronic kidney disease (CKD) is associated with impaired muscle strength. Patients with cystinosis have an increased risk for impaired muscle strength because of early development of CKD and cystinosis-induced myopathy.
Helina Iyob-Tessema +6 more
doaj +1 more source
Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking. [PDF]
, 2019 Tunneling nanotubes (TNTs) are cellular extensions enabling cytosol-to-cytosol intercellular interaction between numerous cell types including macrophages.
Cherqui, Stephanie +4 more
core +1 more source